Toward Diagnostic and Phenotype Markers for Genetically Transmitted Speech Delay.
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| Title: | Toward Diagnostic and Phenotype Markers for Genetically Transmitted Speech Delay. |
|---|---|
| Authors: | Shriberg, Lawrence D.1 shriberg@waisman.wisc.edu, Lewis, Barbara A.2, Tomblin, J. Bruce3, McSweeny, Jane L.1, Karlsson, Heather B.1, Scheer, Alison R.1 |
| Source: | Journal of Speech, Language & Hearing Research. Aug2005, Vol. 48 Issue 4, p834-852. 19p. |
| Subject Terms: | *Articulation (Speech), *Phonology, Genetics, Phenotypes, Speech |
| Abstract: | Converging evidence supports the hypothesis that the most common subtype of childhood speech sound disorder (SSD) of currently unknown origin is genetically transmitted. We report the first findings toward a set of diagnostic markers to differentiate this proposed etiological subtype (provisionally termed speech delay-genetic) from other proposed subtypes of SSD of unknown origin. Conversational speech samples from 72 preschool children with speech delay of unknown origin from 3 research centers were selected from an audio archive. Participants differed on the number of biological, nuclear family members (0 or 2+) classified as positive for current and/or prior speech-language disorder. Although participants in the 2 groups were found to have similar speech competence, as indexed by their Percentage of Consonants Correct scores, their speech error patterns differed significantly in 3 ways. Compared with children who may have reduced genetic load for speech delay (no affected nuclear family members), children with possibly higher genetic load (2+ affected members) had (a) a significantly higher proportion of relative omission errors on the Late-8 consonants; (b) a significantly lower proportion of relative distortion errors on these consonants, particularly on the sibilant fricatives /s/, /z/, and /∫/; and (c) a significantly lower proportion of backed /s/ distortions, as assessed by both perceptual and acoustic methods. Machine learning routines identified a 3-part classification rule that included differential weightings of these variables. The classification rule had diagnostic accuracy value of 0.83 (95% confidence limits = 0.74-0.92), with positive and negative likelihood ratios of 9.6 (95% confidence limits = 3.1-29.9) and 0.40 (95% confidence limits = 0.24-0.68), respectively. The diagnostic accuracy findings are viewed as promising. The error pattern for this proposed subtype of SSD is viewed as consistent with the cognitive-linguistic processing deficits that have been reported for genetically transmitted verbal disorders. [ABSTRACT FROM AUTHOR] |
| Copyright of Journal of Speech, Language & Hearing Research is the property of American Speech-Language-Hearing Association and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Education Research Complete |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: ehh DbLabel: Education Research Complete An: 19286475 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Toward Diagnostic and Phenotype Markers for Genetically Transmitted Speech Delay. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Shriberg%2C+Lawrence+D%2E%22">Shriberg, Lawrence D.</searchLink><relatesTo>1</relatesTo><i> shriberg@waisman.wisc.edu</i><br /><searchLink fieldCode="AR" term="%22Lewis%2C+Barbara+A%2E%22">Lewis, Barbara A.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Tomblin%2C+J%2E+Bruce%22">Tomblin, J. Bruce</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22McSweeny%2C+Jane+L%2E%22">McSweeny, Jane L.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Karlsson%2C+Heather+B%2E%22">Karlsson, Heather B.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Scheer%2C+Alison+R%2E%22">Scheer, Alison R.</searchLink><relatesTo>1</relatesTo> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Journal+of+Speech%2C+Language+%26+Hearing+Research%22">Journal of Speech, Language & Hearing Research</searchLink>. Aug2005, Vol. 48 Issue 4, p834-852. 19p. – Name: Subject Label: Subject Terms Group: Su Data: *<searchLink fieldCode="DE" term="%22Articulation+%28Speech%29%22">Articulation (Speech)</searchLink><br />*<searchLink fieldCode="DE" term="%22Phonology%22">Phonology</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Phenotypes%22">Phenotypes</searchLink><br /><searchLink fieldCode="DE" term="%22Speech%22">Speech</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Converging evidence supports the hypothesis that the most common subtype of childhood speech sound disorder (SSD) of currently unknown origin is genetically transmitted. We report the first findings toward a set of diagnostic markers to differentiate this proposed etiological subtype (provisionally termed speech delay-genetic) from other proposed subtypes of SSD of unknown origin. Conversational speech samples from 72 preschool children with speech delay of unknown origin from 3 research centers were selected from an audio archive. Participants differed on the number of biological, nuclear family members (0 or 2+) classified as positive for current and/or prior speech-language disorder. Although participants in the 2 groups were found to have similar speech competence, as indexed by their Percentage of Consonants Correct scores, their speech error patterns differed significantly in 3 ways. Compared with children who may have reduced genetic load for speech delay (no affected nuclear family members), children with possibly higher genetic load (2+ affected members) had (a) a significantly higher proportion of relative omission errors on the Late-8 consonants; (b) a significantly lower proportion of relative distortion errors on these consonants, particularly on the sibilant fricatives /s/, /z/, and /∫/; and (c) a significantly lower proportion of backed /s/ distortions, as assessed by both perceptual and acoustic methods. Machine learning routines identified a 3-part classification rule that included differential weightings of these variables. The classification rule had diagnostic accuracy value of 0.83 (95% confidence limits = 0.74-0.92), with positive and negative likelihood ratios of 9.6 (95% confidence limits = 3.1-29.9) and 0.40 (95% confidence limits = 0.24-0.68), respectively. The diagnostic accuracy findings are viewed as promising. The error pattern for this proposed subtype of SSD is viewed as consistent with the cognitive-linguistic processing deficits that have been reported for genetically transmitted verbal disorders. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Journal of Speech, Language & Hearing Research is the property of American Speech-Language-Hearing Association and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1044/1092-4388(2005/058) Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 19 StartPage: 834 Subjects: – SubjectFull: Articulation (Speech) Type: general – SubjectFull: Phonology Type: general – SubjectFull: Genetics Type: general – SubjectFull: Phenotypes Type: general – SubjectFull: Speech Type: general Titles: – TitleFull: Toward Diagnostic and Phenotype Markers for Genetically Transmitted Speech Delay. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Shriberg, Lawrence D. – PersonEntity: Name: NameFull: Lewis, Barbara A. – PersonEntity: Name: NameFull: Tomblin, J. Bruce – PersonEntity: Name: NameFull: McSweeny, Jane L. – PersonEntity: Name: NameFull: Karlsson, Heather B. – PersonEntity: Name: NameFull: Scheer, Alison R. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: Aug2005 Type: published Y: 2005 Identifiers: – Type: issn-print Value: 10924388 Numbering: – Type: volume Value: 48 – Type: issue Value: 4 Titles: – TitleFull: Journal of Speech, Language & Hearing Research Type: main |
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